Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
X-linked sideroblastic anemia
CUI: C4551511
Disease: X-linked sideroblastic anemia
23 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 1999 1999
White Blood Cell Count procedure
CUI: C0023508
Disease: White Blood Cell Count procedure
1322 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.700 1.000 1 2009 2009
Virus Diseases
CUI: C0042769
Disease: Virus Diseases
42 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2020 2020
Venous Thromboembolism
CUI: C1861172
Disease: Venous Thromboembolism
408 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 1999 1999
Venous Insufficiency
CUI: C0042485
Disease: Venous Insufficiency
1 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2005 2005
Varicosity
CUI: C0042345
Disease: Varicosity
51 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2016 2016
Varicose Ulcer
CUI: C0042344
Disease: Varicose Ulcer
2 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.020 1.000 2 2006 2016
TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2
CUI: C3280096
Disease: TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2
2 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.700 0
Transferrin saturation measurement
CUI: C1277709
Disease: Transferrin saturation measurement
36 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.700 1.000 1 2014 2014
Transferrin measurement
CUI: C0202105
Disease: Transferrin measurement
10 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.700 1.000 1 2014 2014
Total iron binding capacity function
CUI: C0700379
Disease: Total iron binding capacity function
35 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.700 1.000 2 2011 2017
Tooth Attrition
CUI: C0004277
Disease: Tooth Attrition
5 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1 2003 2003
Thyroid Diseases
CUI: C0040128
Disease: Thyroid Diseases
26 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2010 2010
Thrombocythemia, Essential
CUI: C0040028
Disease: Thrombocythemia, Essential
37 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2002 2002
Thalassemia trait
CUI: C0702157
Disease: Thalassemia trait
2 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.020 1.000 2 2005 2017
Systolic blood pressure measurement
CUI: C1306620
Disease: Systolic blood pressure measurement
95 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.700 1.000 1 2011 2011
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
75 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.030 0.667 3 1998 2009
Sporadic porphyria cutanea tarda
CUI: C1276127
Disease: Sporadic porphyria cutanea tarda
3 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.030 0.667 3 2000 2005
Skin lesion
CUI: C0037284
Disease: Skin lesion
52 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2000 2000
Siderosis
CUI: C0037061
Disease: Siderosis
2 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.020 1.000 2 1998 2010
Sideroblastic anemia
CUI: C0002896
Disease: Sideroblastic anemia
11 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1 1999 1999
Serum transferrin measurement
CUI: C0428545
Disease: Serum transferrin measurement
10 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.700 1.000 1 2014 2014
Serum total cholesterol measurement
CUI: C1445957
Disease: Serum total cholesterol measurement
1243 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.800 1.000 3 2010 2018
Serum LDL cholesterol measurement
CUI: C0428474
Disease: Serum LDL cholesterol measurement
555 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.700 1.000 2 2010 2013
Serum iron measurement
CUI: C1318312
Disease: Serum iron measurement
25 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.700 1.000 1 2014 2014